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Variant : CV73668 (GRCh38/hg38 22q12.1-12.2(chr22:28278805-31742328)x1) Homo sapiens

Symbol: CV73668
Name: GRCh38/hg38 22q12.1-12.2(chr22:28278805-31742328)x1
Condition: See cases [RCV000052870]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AC004264.1   AP1B1   ASCC2   C22orf31   CABP7   CASTOR1   CCDC117   CCDC157   CHEK2   DRG1   DUSP18   EIF4ENIF1   EMID1   EWSR1   GAL3ST1   GAS2L1   HORMAD2   HORMAD2-AS1   HSCB   INPP5J   KIAA1656   KREMEN1   LIF   LIF-AS1   LIMK2   LINC01521   LOC105372990   LOC107275221   LOC107275224   LOC107275225   LOC107985544   LOC108178988   LOC110121419   LOC110121499   LOC112695074   LOC112695075   LOC112695076   LOC112695077   LOC112695078   LOC112695079   LOC112695080   LOC112695081   LOC112695084   LOC112695085   LOC116309129   LOC116309130   MIR3200   MIR3928   MIR5739   MIR6818   MIR7109   MORC2   MORC2-AS1   MTFP1   MTMR3   NEFH   NF2   NIPSNAP1   OSBP2   OSM   PATZ1   PES1   PIK3IP1   PIK3IP1-DT   PISD   PLA2G3   PRR14L   RASL10A   RFPL1   RFPL1S   RHBDD3   RNF185   RNF215   SEC14L2   SEC14L3   SEC14L4   SEC14L6   SELENOM   SF3A1   SFI1   SLC35E4   SMTN   SNORD125   TBC1D10A   TCN2   THOC5   TTC28   TUG1   UQCR10   XBP1   ZMAT5   ZNRF3   ZNRF3-AS1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000022.11:g.(?_28278805)_(31742328_?)del
NC_000022.10:g.(?_28674793)_(32138314_?)del
NC_000022.9:g.(?_27004793)_(30468314_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382228,278,805 - 31,742,328CLINVAR
GRCh372228,674,793 - 32,138,314CLINVAR
Build 362227,004,793 - 30,468,314CLINVAR
Cytogenetic Map2222q12.1-12.2CLINVAR
Prevalence: mental retardation is caused by aberrant copy numbers of subtelomeric regions in 3-8% of all cases.



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8619840
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-09-22
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.